Incidental Mutation 'R1139:4930438A08Rik'
| ID |
95396 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
4930438A08Rik
|
| Ensembl Gene |
ENSMUSG00000069873 |
| Gene Name |
RIKEN cDNA 4930438A08 gene |
| Synonyms |
|
| MMRRC Submission |
039212-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.087)
|
| Stock # |
R1139 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
58165654-58185116 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 58179112 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 149
(V149M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147249
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000108834]
[ENSMUST00000208022]
|
| AlphaFold |
Q5SPH3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000108834
AA Change: V149M
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000104462
Gene: ENSMUSG00000069873
AA Change: V149M
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
Pfam:Pyr_redox_2
|
29 |
166 |
2e-8 |
PFAM |
|
Pfam:AlaDh_PNT_C
|
48 |
124 |
8.8e-8 |
PFAM |
|
Pfam:FAD_binding_3
|
61 |
98 |
1.9e-7 |
PFAM |
|
Pfam:HI0933_like
|
62 |
103 |
3.1e-8 |
PFAM |
|
Pfam:Pyr_redox
|
63 |
105 |
1.8e-7 |
PFAM |
|
Pfam:FAD_binding_2
|
63 |
119 |
8.7e-9 |
PFAM |
|
Pfam:DAO
|
63 |
212 |
2.9e-8 |
PFAM |
|
Pfam:NAD_binding_8
|
66 |
133 |
7.1e-15 |
PFAM |
|
Pfam:Amino_oxidase
|
71 |
270 |
7e-28 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000208022
AA Change: V149M
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 94.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc4 |
A |
G |
14: 118,738,252 (GRCm39) |
M1166T |
possibly damaging |
Het |
| Adgra3 |
A |
T |
5: 50,119,097 (GRCm39) |
|
probably null |
Het |
| Alox12b |
A |
T |
11: 69,055,231 (GRCm39) |
Q334L |
probably damaging |
Het |
| Bltp3a |
T |
C |
17: 28,109,045 (GRCm39) |
F1088S |
possibly damaging |
Het |
| Bod1l |
A |
T |
5: 41,988,814 (GRCm39) |
M431K |
possibly damaging |
Het |
| Ckap5 |
A |
G |
2: 91,411,488 (GRCm39) |
N966D |
probably benign |
Het |
| Csmd3 |
C |
G |
15: 47,559,232 (GRCm39) |
D2240H |
probably damaging |
Het |
| Erbin |
A |
G |
13: 104,020,761 (GRCm39) |
F66S |
probably damaging |
Het |
| Mrgprh |
A |
T |
17: 13,095,829 (GRCm39) |
N23I |
probably benign |
Het |
| Mst1r |
G |
T |
9: 107,797,168 (GRCm39) |
D1346Y |
possibly damaging |
Het |
| Nfe2l2 |
A |
G |
2: 75,507,230 (GRCm39) |
M290T |
probably benign |
Het |
| Nrbp1 |
T |
A |
5: 31,403,157 (GRCm39) |
I210N |
probably damaging |
Het |
| Or52n20 |
A |
G |
7: 104,320,098 (GRCm39) |
Y63C |
probably damaging |
Het |
| Or56a3b |
A |
G |
7: 104,771,180 (GRCm39) |
Y172C |
probably damaging |
Het |
| Or9k7 |
T |
C |
10: 130,046,948 (GRCm39) |
H17R |
possibly damaging |
Het |
| Prl2c2 |
G |
C |
13: 13,176,786 (GRCm39) |
T47R |
probably damaging |
Het |
| Rpgrip1 |
A |
C |
14: 52,384,678 (GRCm39) |
E757D |
probably benign |
Het |
| Scn9a |
T |
G |
2: 66,335,341 (GRCm39) |
K1207T |
probably benign |
Het |
| Spata31e2 |
T |
G |
1: 26,721,746 (GRCm39) |
I1145L |
probably benign |
Het |
| Ssb |
A |
G |
2: 69,696,920 (GRCm39) |
T87A |
possibly damaging |
Het |
| Tfdp1 |
C |
T |
8: 13,423,000 (GRCm39) |
R302C |
probably benign |
Het |
| Thbs4 |
T |
C |
13: 92,911,226 (GRCm39) |
Y319C |
probably damaging |
Het |
| Tiam2 |
C |
A |
17: 3,527,542 (GRCm39) |
Q67K |
possibly damaging |
Het |
| Tox3 |
A |
G |
8: 90,975,497 (GRCm39) |
L378P |
probably damaging |
Het |
| Vcpip1 |
A |
T |
1: 9,816,948 (GRCm39) |
H478Q |
probably damaging |
Het |
| Vmn2r124 |
T |
C |
17: 18,294,052 (GRCm39) |
I713T |
possibly damaging |
Het |
|
| Other mutations in 4930438A08Rik |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02884:4930438A08Rik
|
APN |
11 |
58,178,302 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03088:4930438A08Rik
|
APN |
11 |
58,184,210 (GRCm39) |
missense |
unknown |
|
|
R0715:4930438A08Rik
|
UTSW |
11 |
58,179,176 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1833:4930438A08Rik
|
UTSW |
11 |
58,179,214 (GRCm39) |
nonsense |
probably null |
|
|
R5906:4930438A08Rik
|
UTSW |
11 |
58,182,260 (GRCm39) |
splice site |
probably null |
|
|
R6056:4930438A08Rik
|
UTSW |
11 |
58,184,464 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6288:4930438A08Rik
|
UTSW |
11 |
58,184,421 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6981:4930438A08Rik
|
UTSW |
11 |
58,184,544 (GRCm39) |
unclassified |
probably benign |
|
|
R6989:4930438A08Rik
|
UTSW |
11 |
58,178,228 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R7195:4930438A08Rik
|
UTSW |
11 |
58,179,242 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7344:4930438A08Rik
|
UTSW |
11 |
58,182,273 (GRCm39) |
missense |
|
|
|
R7651:4930438A08Rik
|
UTSW |
11 |
58,184,188 (GRCm39) |
missense |
|
|
|
R8141:4930438A08Rik
|
UTSW |
11 |
58,177,411 (GRCm39) |
missense |
|
|
|
R8187:4930438A08Rik
|
UTSW |
11 |
58,180,548 (GRCm39) |
missense |
|
|
|
R8214:4930438A08Rik
|
UTSW |
11 |
58,177,447 (GRCm39) |
missense |
|
|
|
R8228:4930438A08Rik
|
UTSW |
11 |
58,182,381 (GRCm39) |
missense |
|
|
|
R8744:4930438A08Rik
|
UTSW |
11 |
58,182,260 (GRCm39) |
splice site |
probably null |
|
|
R8977:4930438A08Rik
|
UTSW |
11 |
58,184,710 (GRCm39) |
missense |
unknown |
|
|
R9228:4930438A08Rik
|
UTSW |
11 |
58,178,296 (GRCm39) |
missense |
|
|
|
R9346:4930438A08Rik
|
UTSW |
11 |
58,179,095 (GRCm39) |
missense |
|
|
|
R9421:4930438A08Rik
|
UTSW |
11 |
58,177,451 (GRCm39) |
missense |
|
|
|
R9524:4930438A08Rik
|
UTSW |
11 |
58,180,594 (GRCm39) |
critical splice donor site |
probably null |
|
|
Z1186:4930438A08Rik
|
UTSW |
11 |
58,184,844 (GRCm39) |
missense |
unknown |
|
|
Z1187:4930438A08Rik
|
UTSW |
11 |
58,184,844 (GRCm39) |
missense |
unknown |
|
|
Z1188:4930438A08Rik
|
UTSW |
11 |
58,184,844 (GRCm39) |
missense |
unknown |
|
|
Z1189:4930438A08Rik
|
UTSW |
11 |
58,184,844 (GRCm39) |
missense |
unknown |
|
|
Z1190:4930438A08Rik
|
UTSW |
11 |
58,184,844 (GRCm39) |
missense |
unknown |
|
|
Z1191:4930438A08Rik
|
UTSW |
11 |
58,184,844 (GRCm39) |
missense |
unknown |
|
|
Z1192:4930438A08Rik
|
UTSW |
11 |
58,184,844 (GRCm39) |
missense |
unknown |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TTGGTGAATCCAAGGCGGACAG -3'
(R):5'- GAGGTTGACTCAAAGCTCTTCCCTG -3'
Sequencing Primer
(F):5'- CGGACAGGAAGTAAGCCC -3'
(R):5'- TGTTTCTGCAAGGTGGCTC -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation